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hopesiris
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What a cutie! Glad to hear he doesn't have CF.
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Just recived back Nicolas's CF test
- Thread starter Asexyblond23
- Start date
H
hopesiris
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What a cutie! Glad to hear he doesn't have CF.
H
hopesiris
Guest
What a cutie! Glad to hear he doesn't have CF.
H
hopesiris
Guest
What a cutie! Glad to hear he doesn't have CF.
H
hopesiris
Guest
What a cutie! Glad to hear he doesn't have CF.
S
semperfiohana
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semperfiohana
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semperfiohana
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Asexyblond23
New member
LaurenJust recived back Nicolas's CF test
Lauren,
Of course it was one of the main test that we were concerned about making sure it was done. Since it has become a mandatory newborn test it was automatically done. We recieved the results by going and getting a copy of nicolas's medical records from the hospital. Now we did leave the hospital a day early due to the snow storm so they might have been done and ready for us the day we would normally of left. In his blood work results with his PKU testing was the results for CF and it just said within normal range. As a mother you should not have to do anything speical to have the test done. I am pretty positive that it is mandatory in all states.
Lauren,
Of course it was one of the main test that we were concerned about making sure it was done. Since it has become a mandatory newborn test it was automatically done. We recieved the results by going and getting a copy of nicolas's medical records from the hospital. Now we did leave the hospital a day early due to the snow storm so they might have been done and ready for us the day we would normally of left. In his blood work results with his PKU testing was the results for CF and it just said within normal range. As a mother you should not have to do anything speical to have the test done. I am pretty positive that it is mandatory in all states.
Asexyblond23
New member
LaurenJust recived back Nicolas's CF test
Lauren,
Of course it was one of the main test that we were concerned about making sure it was done. Since it has become a mandatory newborn test it was automatically done. We recieved the results by going and getting a copy of nicolas's medical records from the hospital. Now we did leave the hospital a day early due to the snow storm so they might have been done and ready for us the day we would normally of left. In his blood work results with his PKU testing was the results for CF and it just said within normal range. As a mother you should not have to do anything speical to have the test done. I am pretty positive that it is mandatory in all states.
Lauren,
Of course it was one of the main test that we were concerned about making sure it was done. Since it has become a mandatory newborn test it was automatically done. We recieved the results by going and getting a copy of nicolas's medical records from the hospital. Now we did leave the hospital a day early due to the snow storm so they might have been done and ready for us the day we would normally of left. In his blood work results with his PKU testing was the results for CF and it just said within normal range. As a mother you should not have to do anything speical to have the test done. I am pretty positive that it is mandatory in all states.
Asexyblond23
New member
LaurenJust recived back Nicolas's CF test
Lauren,
Of course it was one of the main test that we were concerned about making sure it was done. Since it has become a mandatory newborn test it was automatically done. We recieved the results by going and getting a copy of nicolas's medical records from the hospital. Now we did leave the hospital a day early due to the snow storm so they might have been done and ready for us the day we would normally of left. In his blood work results with his PKU testing was the results for CF and it just said within normal range. As a mother you should not have to do anything speical to have the test done. I am pretty positive that it is mandatory in all states.
Lauren,
Of course it was one of the main test that we were concerned about making sure it was done. Since it has become a mandatory newborn test it was automatically done. We recieved the results by going and getting a copy of nicolas's medical records from the hospital. Now we did leave the hospital a day early due to the snow storm so they might have been done and ready for us the day we would normally of left. In his blood work results with his PKU testing was the results for CF and it just said within normal range. As a mother you should not have to do anything speical to have the test done. I am pretty positive that it is mandatory in all states.
Asexyblond23
New member
LaurenJust recived back Nicolas's CF test
Lauren,
Of course it was one of the main test that we were concerned about making sure it was done. Since it has become a mandatory newborn test it was automatically done. We recieved the results by going and getting a copy of nicolas's medical records from the hospital. Now we did leave the hospital a day early due to the snow storm so they might have been done and ready for us the day we would normally of left. In his blood work results with his PKU testing was the results for CF and it just said within normal range. As a mother you should not have to do anything speical to have the test done. I am pretty positive that it is mandatory in all states.
Lauren,
Of course it was one of the main test that we were concerned about making sure it was done. Since it has become a mandatory newborn test it was automatically done. We recieved the results by going and getting a copy of nicolas's medical records from the hospital. Now we did leave the hospital a day early due to the snow storm so they might have been done and ready for us the day we would normally of left. In his blood work results with his PKU testing was the results for CF and it just said within normal range. As a mother you should not have to do anything speical to have the test done. I am pretty positive that it is mandatory in all states.
Asexyblond23
New member
LaurenJust recived back Nicolas's CF test
Lauren,
<br />
<br />Of course it was one of the main test that we were concerned about making sure it was done. Since it has become a mandatory newborn test it was automatically done. We recieved the results by going and getting a copy of nicolas's medical records from the hospital. Now we did leave the hospital a day early due to the snow storm so they might have been done and ready for us the day we would normally of left. In his blood work results with his PKU testing was the results for CF and it just said within normal range. As a mother you should not have to do anything speical to have the test done. I am pretty positive that it is mandatory in all states.
Lauren,
<br />
<br />Of course it was one of the main test that we were concerned about making sure it was done. Since it has become a mandatory newborn test it was automatically done. We recieved the results by going and getting a copy of nicolas's medical records from the hospital. Now we did leave the hospital a day early due to the snow storm so they might have been done and ready for us the day we would normally of left. In his blood work results with his PKU testing was the results for CF and it just said within normal range. As a mother you should not have to do anything speical to have the test done. I am pretty positive that it is mandatory in all states.
LaurenJust recived back Nicolas's CF test
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Asexyblond23</b></i>
As a mother you should not have to do anything speical to have the test done. I am pretty positive that it is mandatory in all states.</end quote></div>
As a mother I wanted to close the book on any chance of cf in my child. I'm not judging you Alisha, I'm just providing knowledge from my experience.
Isaac was born in PA where there was newborn screening done by IRT level. His level was considered normal. IRT newborn screening uses a methodology of referring the top 10% of births each day I believe for add'l cf testing so each to number varies (which left me unsettled personally). Other states use a very basic cf gene panel screen (around 25 mutations). So one might find it important to find out more about your states newborn screening method.
Isaac was then sweat tested with a result of 11 and 12. Very, very normal. Then he was genetically sequenced where they found two mutations, one from me and one from (later found out by the same test) DAD. This was after dad had tested negative to 95% of the mutations (89 mutations).
Isaac is 2.5 and is followed as though he has cf. He is in the cf registry and all. We feel he will become symptomatic but the question is when. As parents we rest easier knowing we are doing what we can to prevent illness onset. Of course, we pray that it never will but more likely a medicine such as Vertex will hault his progression in its tracks. If we didn't know we wouldn't be able to help him. His mutations are the same as Malora's on this site who has classic cf despite most literature saying he is not in much risk for respiratory involvement. But is at risk for severe pancreatitis. That alone is a nice to know thing. We certainly won't take belly pains lightly.
If I sound like a broken record I apologize, it's just that each time I write my story I know that at least 1 new person is reading it and I want to do my part in helping other new babies with cf be diagnosed before they are symptomatic.
I feel I was blessed with Isaac (which has resulted in full disablity for me) in order to find a cure for cf. He and I having G551D - the mutation that is helping lead the way in a cf breakthrough - is no mistake. God works in unusual ways.
I'm available through PM for a add'l information or questions. I don't want to hijack this good news post.
Congratulations Alisha and Nick. Your baby is beautiful.
How did the hemorroids end up effecting your l&d? ...if you don't mind me asking.
Lauren
31 f w/ cf. DF508 and G551D
and mother to Isaac 7/10/07 G551D (from me) and S1235R (from dad)
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Asexyblond23</b></i>
As a mother you should not have to do anything speical to have the test done. I am pretty positive that it is mandatory in all states.</end quote></div>
As a mother I wanted to close the book on any chance of cf in my child. I'm not judging you Alisha, I'm just providing knowledge from my experience.
Isaac was born in PA where there was newborn screening done by IRT level. His level was considered normal. IRT newborn screening uses a methodology of referring the top 10% of births each day I believe for add'l cf testing so each to number varies (which left me unsettled personally). Other states use a very basic cf gene panel screen (around 25 mutations). So one might find it important to find out more about your states newborn screening method.
Isaac was then sweat tested with a result of 11 and 12. Very, very normal. Then he was genetically sequenced where they found two mutations, one from me and one from (later found out by the same test) DAD. This was after dad had tested negative to 95% of the mutations (89 mutations).
Isaac is 2.5 and is followed as though he has cf. He is in the cf registry and all. We feel he will become symptomatic but the question is when. As parents we rest easier knowing we are doing what we can to prevent illness onset. Of course, we pray that it never will but more likely a medicine such as Vertex will hault his progression in its tracks. If we didn't know we wouldn't be able to help him. His mutations are the same as Malora's on this site who has classic cf despite most literature saying he is not in much risk for respiratory involvement. But is at risk for severe pancreatitis. That alone is a nice to know thing. We certainly won't take belly pains lightly.
If I sound like a broken record I apologize, it's just that each time I write my story I know that at least 1 new person is reading it and I want to do my part in helping other new babies with cf be diagnosed before they are symptomatic.
I feel I was blessed with Isaac (which has resulted in full disablity for me) in order to find a cure for cf. He and I having G551D - the mutation that is helping lead the way in a cf breakthrough - is no mistake. God works in unusual ways.
I'm available through PM for a add'l information or questions. I don't want to hijack this good news post.
Congratulations Alisha and Nick. Your baby is beautiful.
How did the hemorroids end up effecting your l&d? ...if you don't mind me asking.
Lauren
31 f w/ cf. DF508 and G551D
and mother to Isaac 7/10/07 G551D (from me) and S1235R (from dad)
LaurenJust recived back Nicolas's CF test
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Asexyblond23</b></i>
As a mother you should not have to do anything speical to have the test done. I am pretty positive that it is mandatory in all states.</end quote></div>
As a mother I wanted to close the book on any chance of cf in my child. I'm not judging you Alisha, I'm just providing knowledge from my experience.
Isaac was born in PA where there was newborn screening done by IRT level. His level was considered normal. IRT newborn screening uses a methodology of referring the top 10% of births each day I believe for add'l cf testing so each to number varies (which left me unsettled personally). Other states use a very basic cf gene panel screen (around 25 mutations). So one might find it important to find out more about your states newborn screening method.
Isaac was then sweat tested with a result of 11 and 12. Very, very normal. Then he was genetically sequenced where they found two mutations, one from me and one from (later found out by the same test) DAD. This was after dad had tested negative to 95% of the mutations (89 mutations).
Isaac is 2.5 and is followed as though he has cf. He is in the cf registry and all. We feel he will become symptomatic but the question is when. As parents we rest easier knowing we are doing what we can to prevent illness onset. Of course, we pray that it never will but more likely a medicine such as Vertex will hault his progression in its tracks. If we didn't know we wouldn't be able to help him. His mutations are the same as Malora's on this site who has classic cf despite most literature saying he is not in much risk for respiratory involvement. But is at risk for severe pancreatitis. That alone is a nice to know thing. We certainly won't take belly pains lightly.
If I sound like a broken record I apologize, it's just that each time I write my story I know that at least 1 new person is reading it and I want to do my part in helping other new babies with cf be diagnosed before they are symptomatic.
I feel I was blessed with Isaac (which has resulted in full disablity for me) in order to find a cure for cf. He and I having G551D - the mutation that is helping lead the way in a cf breakthrough - is no mistake. God works in unusual ways.
I'm available through PM for a add'l information or questions. I don't want to hijack this good news post.
Congratulations Alisha and Nick. Your baby is beautiful.
How did the hemorroids end up effecting your l&d? ...if you don't mind me asking.
Lauren
31 f w/ cf. DF508 and G551D
and mother to Isaac 7/10/07 G551D (from me) and S1235R (from dad)
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Asexyblond23</b></i>
As a mother you should not have to do anything speical to have the test done. I am pretty positive that it is mandatory in all states.</end quote></div>
As a mother I wanted to close the book on any chance of cf in my child. I'm not judging you Alisha, I'm just providing knowledge from my experience.
Isaac was born in PA where there was newborn screening done by IRT level. His level was considered normal. IRT newborn screening uses a methodology of referring the top 10% of births each day I believe for add'l cf testing so each to number varies (which left me unsettled personally). Other states use a very basic cf gene panel screen (around 25 mutations). So one might find it important to find out more about your states newborn screening method.
Isaac was then sweat tested with a result of 11 and 12. Very, very normal. Then he was genetically sequenced where they found two mutations, one from me and one from (later found out by the same test) DAD. This was after dad had tested negative to 95% of the mutations (89 mutations).
Isaac is 2.5 and is followed as though he has cf. He is in the cf registry and all. We feel he will become symptomatic but the question is when. As parents we rest easier knowing we are doing what we can to prevent illness onset. Of course, we pray that it never will but more likely a medicine such as Vertex will hault his progression in its tracks. If we didn't know we wouldn't be able to help him. His mutations are the same as Malora's on this site who has classic cf despite most literature saying he is not in much risk for respiratory involvement. But is at risk for severe pancreatitis. That alone is a nice to know thing. We certainly won't take belly pains lightly.
If I sound like a broken record I apologize, it's just that each time I write my story I know that at least 1 new person is reading it and I want to do my part in helping other new babies with cf be diagnosed before they are symptomatic.
I feel I was blessed with Isaac (which has resulted in full disablity for me) in order to find a cure for cf. He and I having G551D - the mutation that is helping lead the way in a cf breakthrough - is no mistake. God works in unusual ways.
I'm available through PM for a add'l information or questions. I don't want to hijack this good news post.
Congratulations Alisha and Nick. Your baby is beautiful.
How did the hemorroids end up effecting your l&d? ...if you don't mind me asking.
Lauren
31 f w/ cf. DF508 and G551D
and mother to Isaac 7/10/07 G551D (from me) and S1235R (from dad)
LaurenJust recived back Nicolas's CF test
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Asexyblond23</b></i>
As a mother you should not have to do anything speical to have the test done. I am pretty positive that it is mandatory in all states.</end quote></div>
As a mother I wanted to close the book on any chance of cf in my child. I'm not judging you Alisha, I'm just providing knowledge from my experience.
Isaac was born in PA where there was newborn screening done by IRT level. His level was considered normal. IRT newborn screening uses a methodology of referring the top 10% of births each day I believe for add'l cf testing so each to number varies (which left me unsettled personally). Other states use a very basic cf gene panel screen (around 25 mutations). So one might find it important to find out more about your states newborn screening method.
Isaac was then sweat tested with a result of 11 and 12. Very, very normal. Then he was genetically sequenced where they found two mutations, one from me and one from (later found out by the same test) DAD. This was after dad had tested negative to 95% of the mutations (89 mutations).
Isaac is 2.5 and is followed as though he has cf. He is in the cf registry and all. We feel he will become symptomatic but the question is when. As parents we rest easier knowing we are doing what we can to prevent illness onset. Of course, we pray that it never will but more likely a medicine such as Vertex will hault his progression in its tracks. If we didn't know we wouldn't be able to help him. His mutations are the same as Malora's on this site who has classic cf despite most literature saying he is not in much risk for respiratory involvement. But is at risk for severe pancreatitis. That alone is a nice to know thing. We certainly won't take belly pains lightly.
If I sound like a broken record I apologize, it's just that each time I write my story I know that at least 1 new person is reading it and I want to do my part in helping other new babies with cf be diagnosed before they are symptomatic.
I feel I was blessed with Isaac (which has resulted in full disablity for me) in order to find a cure for cf. He and I having G551D - the mutation that is helping lead the way in a cf breakthrough - is no mistake. God works in unusual ways.
I'm available through PM for a add'l information or questions. I don't want to hijack this good news post.
Congratulations Alisha and Nick. Your baby is beautiful.
How did the hemorroids end up effecting your l&d? ...if you don't mind me asking.
Lauren
31 f w/ cf. DF508 and G551D
and mother to Isaac 7/10/07 G551D (from me) and S1235R (from dad)
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Asexyblond23</b></i>
As a mother you should not have to do anything speical to have the test done. I am pretty positive that it is mandatory in all states.</end quote></div>
As a mother I wanted to close the book on any chance of cf in my child. I'm not judging you Alisha, I'm just providing knowledge from my experience.
Isaac was born in PA where there was newborn screening done by IRT level. His level was considered normal. IRT newborn screening uses a methodology of referring the top 10% of births each day I believe for add'l cf testing so each to number varies (which left me unsettled personally). Other states use a very basic cf gene panel screen (around 25 mutations). So one might find it important to find out more about your states newborn screening method.
Isaac was then sweat tested with a result of 11 and 12. Very, very normal. Then he was genetically sequenced where they found two mutations, one from me and one from (later found out by the same test) DAD. This was after dad had tested negative to 95% of the mutations (89 mutations).
Isaac is 2.5 and is followed as though he has cf. He is in the cf registry and all. We feel he will become symptomatic but the question is when. As parents we rest easier knowing we are doing what we can to prevent illness onset. Of course, we pray that it never will but more likely a medicine such as Vertex will hault his progression in its tracks. If we didn't know we wouldn't be able to help him. His mutations are the same as Malora's on this site who has classic cf despite most literature saying he is not in much risk for respiratory involvement. But is at risk for severe pancreatitis. That alone is a nice to know thing. We certainly won't take belly pains lightly.
If I sound like a broken record I apologize, it's just that each time I write my story I know that at least 1 new person is reading it and I want to do my part in helping other new babies with cf be diagnosed before they are symptomatic.
I feel I was blessed with Isaac (which has resulted in full disablity for me) in order to find a cure for cf. He and I having G551D - the mutation that is helping lead the way in a cf breakthrough - is no mistake. God works in unusual ways.
I'm available through PM for a add'l information or questions. I don't want to hijack this good news post.
Congratulations Alisha and Nick. Your baby is beautiful.
How did the hemorroids end up effecting your l&d? ...if you don't mind me asking.
Lauren
31 f w/ cf. DF508 and G551D
and mother to Isaac 7/10/07 G551D (from me) and S1235R (from dad)
LaurenJust recived back Nicolas's CF test
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Asexyblond23</b></i>
As a mother you should not have to do anything speical to have the test done. I am pretty positive that it is mandatory in all states.</end quote>
As a mother I wanted to close the book on any chance of cf in my child. I'm not judging you Alisha, I'm just providing knowledge from my experience.
Isaac was born in PA where there was newborn screening done by IRT level. His level was considered normal. IRT newborn screening uses a methodology of referring the top 10% of births each day I believe for add'l cf testing so each to number varies (which left me unsettled personally). Other states use a very basic cf gene panel screen (around 25 mutations). So one might find it important to find out more about your states newborn screening method.
Isaac was then sweat tested with a result of 11 and 12. Very, very normal. Then he was genetically sequenced where they found two mutations, one from me and one from (later found out by the same test) DAD. This was after dad had tested negative to 95% of the mutations (89 mutations).
Isaac is 2.5 and is followed as though he has cf. He is in the cf registry and all. We feel he will become symptomatic but the question is when. As parents we rest easier knowing we are doing what we can to prevent illness onset. Of course, we pray that it never will but more likely a medicine such as Vertex will hault his progression in its tracks. If we didn't know we wouldn't be able to help him. His mutations are the same as Malora's on this site who has classic cf despite most literature saying he is not in much risk for respiratory involvement. But is at risk for severe pancreatitis. That alone is a nice to know thing. We certainly won't take belly pains lightly.
If I sound like a broken record I apologize, it's just that each time I write my story I know that at least 1 new person is reading it and I want to do my part in helping other new babies with cf be diagnosed before they are symptomatic.
I feel I was blessed with Isaac (which has resulted in full disablity for me) in order to find a cure for cf. He and I having G551D - the mutation that is helping lead the way in a cf breakthrough - is no mistake. God works in unusual ways.
I'm available through PM for a add'l information or questions. I don't want to hijack this good news post.
Congratulations Alisha and Nick. Your baby is beautiful.
How did the hemorroids end up effecting your l&d? ...if you don't mind me asking.
Lauren
31 f w/ cf. DF508 and G551D
and mother to Isaac 7/10/07 G551D (from me) and S1235R (from dad)
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Asexyblond23</b></i>
As a mother you should not have to do anything speical to have the test done. I am pretty positive that it is mandatory in all states.</end quote>
As a mother I wanted to close the book on any chance of cf in my child. I'm not judging you Alisha, I'm just providing knowledge from my experience.
Isaac was born in PA where there was newborn screening done by IRT level. His level was considered normal. IRT newborn screening uses a methodology of referring the top 10% of births each day I believe for add'l cf testing so each to number varies (which left me unsettled personally). Other states use a very basic cf gene panel screen (around 25 mutations). So one might find it important to find out more about your states newborn screening method.
Isaac was then sweat tested with a result of 11 and 12. Very, very normal. Then he was genetically sequenced where they found two mutations, one from me and one from (later found out by the same test) DAD. This was after dad had tested negative to 95% of the mutations (89 mutations).
Isaac is 2.5 and is followed as though he has cf. He is in the cf registry and all. We feel he will become symptomatic but the question is when. As parents we rest easier knowing we are doing what we can to prevent illness onset. Of course, we pray that it never will but more likely a medicine such as Vertex will hault his progression in its tracks. If we didn't know we wouldn't be able to help him. His mutations are the same as Malora's on this site who has classic cf despite most literature saying he is not in much risk for respiratory involvement. But is at risk for severe pancreatitis. That alone is a nice to know thing. We certainly won't take belly pains lightly.
If I sound like a broken record I apologize, it's just that each time I write my story I know that at least 1 new person is reading it and I want to do my part in helping other new babies with cf be diagnosed before they are symptomatic.
I feel I was blessed with Isaac (which has resulted in full disablity for me) in order to find a cure for cf. He and I having G551D - the mutation that is helping lead the way in a cf breakthrough - is no mistake. God works in unusual ways.
I'm available through PM for a add'l information or questions. I don't want to hijack this good news post.
Congratulations Alisha and Nick. Your baby is beautiful.
How did the hemorroids end up effecting your l&d? ...if you don't mind me asking.
Lauren
31 f w/ cf. DF508 and G551D
and mother to Isaac 7/10/07 G551D (from me) and S1235R (from dad)
LaurenJust recived back Nicolas's CF test
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Asexyblond23</b></i>
<br />
<br /> As a mother you should not have to do anything speical to have the test done. I am pretty positive that it is mandatory in all states.</end quote>
<br />
<br />As a mother I wanted to close the book on any chance of cf in my child. I'm not judging you Alisha, I'm just providing knowledge from my experience.
<br />
<br />Isaac was born in PA where there was newborn screening done by IRT level. His level was considered normal. IRT newborn screening uses a methodology of referring the top 10% of births each day I believe for add'l cf testing so each to number varies (which left me unsettled personally). Other states use a very basic cf gene panel screen (around 25 mutations). So one might find it important to find out more about your states newborn screening method.
<br />
<br />Isaac was then sweat tested with a result of 11 and 12. Very, very normal. Then he was genetically sequenced where they found two mutations, one from me and one from (later found out by the same test) DAD. This was after dad had tested negative to 95% of the mutations (89 mutations).
<br />
<br />Isaac is 2.5 and is followed as though he has cf. He is in the cf registry and all. We feel he will become symptomatic but the question is when. As parents we rest easier knowing we are doing what we can to prevent illness onset. Of course, we pray that it never will but more likely a medicine such as Vertex will hault his progression in its tracks. If we didn't know we wouldn't be able to help him. His mutations are the same as Malora's on this site who has classic cf despite most literature saying he is not in much risk for respiratory involvement. But is at risk for severe pancreatitis. That alone is a nice to know thing. We certainly won't take belly pains lightly.
<br />
<br />If I sound like a broken record I apologize, it's just that each time I write my story I know that at least 1 new person is reading it and I want to do my part in helping other new babies with cf be diagnosed before they are symptomatic.
<br />
<br />I feel I was blessed with Isaac (which has resulted in full disablity for me) in order to find a cure for cf. He and I having G551D - the mutation that is helping lead the way in a cf breakthrough - is no mistake. God works in unusual ways.
<br />
<br />I'm available through PM for a add'l information or questions. I don't want to hijack this good news post.
<br />
<br />Congratulations Alisha and Nick. Your baby is beautiful.
<br />How did the hemorroids end up effecting your l&d? ...if you don't mind me asking.
<br />
<br />Lauren
<br />31 f w/ cf. DF508 and G551D
<br />and mother to Isaac 7/10/07 G551D (from me) and S1235R (from dad)
<div class="FTQUOTE"><begin quote><i>Originally posted by: <b>Asexyblond23</b></i>
<br />
<br /> As a mother you should not have to do anything speical to have the test done. I am pretty positive that it is mandatory in all states.</end quote>
<br />
<br />As a mother I wanted to close the book on any chance of cf in my child. I'm not judging you Alisha, I'm just providing knowledge from my experience.
<br />
<br />Isaac was born in PA where there was newborn screening done by IRT level. His level was considered normal. IRT newborn screening uses a methodology of referring the top 10% of births each day I believe for add'l cf testing so each to number varies (which left me unsettled personally). Other states use a very basic cf gene panel screen (around 25 mutations). So one might find it important to find out more about your states newborn screening method.
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<br />Isaac was then sweat tested with a result of 11 and 12. Very, very normal. Then he was genetically sequenced where they found two mutations, one from me and one from (later found out by the same test) DAD. This was after dad had tested negative to 95% of the mutations (89 mutations).
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<br />Isaac is 2.5 and is followed as though he has cf. He is in the cf registry and all. We feel he will become symptomatic but the question is when. As parents we rest easier knowing we are doing what we can to prevent illness onset. Of course, we pray that it never will but more likely a medicine such as Vertex will hault his progression in its tracks. If we didn't know we wouldn't be able to help him. His mutations are the same as Malora's on this site who has classic cf despite most literature saying he is not in much risk for respiratory involvement. But is at risk for severe pancreatitis. That alone is a nice to know thing. We certainly won't take belly pains lightly.
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<br />If I sound like a broken record I apologize, it's just that each time I write my story I know that at least 1 new person is reading it and I want to do my part in helping other new babies with cf be diagnosed before they are symptomatic.
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<br />I feel I was blessed with Isaac (which has resulted in full disablity for me) in order to find a cure for cf. He and I having G551D - the mutation that is helping lead the way in a cf breakthrough - is no mistake. God works in unusual ways.
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<br />I'm available through PM for a add'l information or questions. I don't want to hijack this good news post.
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<br />Congratulations Alisha and Nick. Your baby is beautiful.
<br />How did the hemorroids end up effecting your l&d? ...if you don't mind me asking.
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<br />Lauren
<br />31 f w/ cf. DF508 and G551D
<br />and mother to Isaac 7/10/07 G551D (from me) and S1235R (from dad)